Chiari malformation and syringomyelia in monozygotic twins: birth injury as a possible cause of syringomyelia--case report

A 26-year-old female, the elder of monozygotic twins, presented with slow progressive numbness and pain in her left arm. Magnetic resonance (MR) imaging showed syringomyelia with Chiari malformation. The patient's birth had been difficult with prolonged delivery time, breech delivery, and neonatal asphyxia. MR imaging of the patient's twin sister showed mild tonsillar ectopia, but absence of syringomyelia. This younger sister was born without problems. The patient underwent syringosubarachnoid shunt at the C5-6 level. The syrinx was collapsed promptly, and her symptoms disappeared. This case of syringomyelia with Chiari malformation in one of twins suggests that birth injury is likely to be a cause of the pathogenesis of syringomyelia.     

Molecular analysis of the human orosomucoid gene ORM1*Q0köln responsible for incompatibility in a German paternity case

In a German paternity test, an alleged father was excluded only by reverse homozygosity of ORM1 phenotypes (mother ORM1 S, child ORM1 S and alleged father ORM1 F1) out of the 28 classical and DNA markers investigated. Without the ORM1 system the biostatistical probability of paternity was calculated to exceed 99.9999%. The intensity of the immunoprinted bands of the ORM1 protein for the child and alleged father after isoelectric focusing appeared to be reduced to about half. To identify a possible null allele, gene-specific amplification followed by single-strand conformation polymorphism and sequencing analyses were carried out. Deletion of one of the two copies of a 4 bp direct repeat sequence (GTCT) in exon 4 of the consensus sequence of ORM1*F1 was observed in the child and alleged father. Thus, the sharing of a rare mutant gene, ORM1*Q0_köln, increased the probability of paternity.     

Coronary artery bypass grafting for a patient with bronchial asthma seceeded from cardiopulmonary bypass by additional bypass for spasm of radial artery graft: a case report

A 78-year-old male who had a bronchial asthma underwent coronary artery bypass grafting (CABG) using the left internal thoracic artery and the radial artery. The patient could not be weaned from the cardiopulmonary bypass because the radial artery which anastomosed to the obtuse marginal artery (OM) had a spasm after CABG. An additional bypass using a long saphenous vein to OM was carried out immediately. It brought a weaning from cardiopulmonary bypass. If the cardiac function after CABG is insufficient in patients with bronchial asthma, CABG must be re-done immediately, considering that they cause the arterial spasm more than patients without bronchial asthma.     

Relationships between matrix metalloproteinases and tissue inhibitor of metalloproteinases in the wall of abdominal aortic aneurysms.

AIM: The pathologic feature of aortic aneurysm is considered to be the remodeling of the aortic wall, involving fragmentation and decrease of elastic fibers in the tunica media. Matrix metalloproteinases (MMPs), particularly MMP-2 and MMP-9, have been implicated in collagen and elastin degeneration within the aortic wall. The precise relationship among MMPs and tissue inhibitor of metalloproteinases (TIMPs) is still unclear. We have studied the expression of MMP-2, MMP-9 tissue inhibitor of metalloprotein-1 (TIMP-1), TIMP-2 and membrane type 1-MMP (MT-1-MMP) in the wall of small AAAs (30-45 mm), large AAAs (>45 mm) and controls (<25 mm). We investigated the relationship among expressions of MMP-2, TIMP-2 and MT1-MMP in the walls. METHODS: The aortic walls in the patients with AAA were harvested from the maximum diameter, while the aortic walls in autopsy cases were harvested as controls. We analyzed tissue distribution of cell types by immunochemistry, protein expression by Western blotting and mRNA expression by competitive polymerase chain reaction. RESULTS: They consisted of 11 in controls, 8 in small AAAs and 26 in large AAAs. Among the MMPs-positive-cells, mainly macrophage, MMP-2-positive cells were in the intima, but MMP-9-positive cells in the intima and adventitia. In the small size, MMP-2 and MMP-9 mRNA were higher than those of control. In the large size, MT1-MMP and MMP-9 mRNA were higher than those of the controls. In the mRNA level of the whole AAA, significant correlations were present between MMP-2 and MMP-9, between MMP-2 and TIMP-1, and between MMP-9 and TIMP-1. These expressions were confirmed by Western blotting. CONCLUSION: We concluded as follows: 1) MMP-2 and MMP-9 may play an important role in the developmental process of AAA. 2) TIMP-1 plays an important role of interacting MMP-2 and/or MMP-9. 3) MMP-2 and MT1-MMP may play an important role in the early stages of AAAs.     

Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome

Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disorder caused by mutations in either TSC1 on chromosome 16 or TSC2 on chromosome 9, clinically characterized mainly by facial angiofibroma, epilepsy, and intellectual disability. Cortical dysplasias, subependymal nodules, and subependymal giant cell astrocytoma are characteristic central nervous system lesions among 11 major features in the current clinical diagnostic criteria for TSC. We encountered an unusual case of genetically confirmed TSC1 presenting with symptomatic West syndrome due to an isolated cortical dysplasia in the left occipital lobe of a six‐month‐old male infant who did not meet the clinical diagnostic criteria for TSC. The patient underwent left occipital lesionectomy at age 11 months and has been seizure‐free for nearly six years since then. Histological examination of the resection specimen revealed cortical neuronal dyslamination with abundant dysmorphic neurons and ballooned cells, consistent with focal cortical dysplasia (FCD) type IIb. However, the lesion was also accompanied by unusual features, including marked calcifications, dense fibrillary gliosis containing abundant Rosenthal fibers, CD34‐positive glial cells with abundant long processes confined to the dysplastic cortex, and multiple nodular lesions occupying the underlying white matter, consisting exclusively of ballooned cell and/or balloon‐like astrocytes with focal calcifications. Genetic testing for TSC1 and TSC2 using the patient's peripheral blood revealed a germline heterozygous mutation in exon 7 (NM_000368.5: c.526dupT, p.Tyr176fs) in TSC1. Isolated FCD with unusual features such as calcification, dense fibrillary gliosis, Rosenthal fibers and/or subependymal nodule‐like lesions in the white matter may indicate the possibility of a cortical tuber even without a clinical diagnosis of TSC. Identification of such histopathological findings has significant implications for early and accurate diagnosis and treatment of TSC, and is likely to serve as an important supplementary feature for the current clinical diagnostic criteria for TSC.     

The role of physical therapists in introducing assistive products for the home-bound elderly disabled

[Purpose] This study explored the roles of physical therapists (PTs) in introducing assistive products, which are essential for living securely and stably at home, and examined how PTs can fulfill these roles more efficiently and effectively. [Subjects and Methods] A questionnaire on introducing assistive products was administered to PTs working at randomly selected hospitals, health-care facilities for the elderly requiring long-term care, home-visit nursing stations, and other such facilities and to PTs providing physical therapy directly to the home-bound elderly disabled. The subjects of the study were 77 PTs who returned valid responses. [Results] For awareness of systems for assistive product’s introduction, PTs were more aware of the system based on the Long-Term Care (LTC) Insurance Act than the system based on the Act on Welfare for the Home-Bound Elderly Disabled. For PTs handling assistive product’s introduction for the home-bound elderly disabled, approximately 91% of the respondents answered that they had handled some cases of assistive product’s introduction, and PTs with longer clinical experience had handled more assistive product’s introduction cases. [Conclusion] The results demonstrated that PTs understand the work involved in introducing assistive products work well and that they handle it. The results, however, also suggested that educational and operational improvements are urgently required for PTs introducing assistive products essential for the lives of the home-bound elderly disabled.Key words: Assistive products, Physical therapists, Home-bound elderly disabled